65 research outputs found

    Heritability of a skeletal biomarker of biological aging

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    Changes in the skeletal system, which include age-related bone and joint remodeling, can potentially be used as a biomarker of biological aging. The aim of the present study was to investigate the extent and mode of inheritance of skeletal biomarker of biological aging—osseographic score (OSS), in a large sample of ethnically homogeneous pedigrees. The investigated cohort comprised 359 Chuvashian families and included 787 men aged 18–89 years (mean 46.9) and 723 women aged 18–90 years (mean 48.5). The TOSS - transformed OSS standardized in 5-year age groups for each sex, was analyzed as a BA index. We evaluated familial correlations and performed segregation analysis. Results of our study suggest the familial aggregations of TOSS variation in the Chuvashian pedigrees. In a segregation analysis we found a significant major gene (MG) effect in the individual’s TOSS with a dominant most parsimonious model (H2 = 0.32). Genetic factors (MG genotypes) explained 47% of the residual OSS variance after age adjustment and after including sex-genotype interaction, they explained 52% of the residual variance. Results of our study also indicated that the inherited difference in the skeletal aging pattern in men lies mostly in the rate of aging, but in women in the age of the onset of the period of visible skeletal changes

    Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

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    <p>Abstract</p> <p>Background</p> <p>Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations.</p> <p>Results</p> <p>We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations.</p> <p>Conclusion</p> <p>These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent.</p

    Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses

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    Fluctuating asymmetry (FA), as an indirect measure of developmental instability (DI), has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space) in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development.Research Fund of the University of Antwerp, mobility grant from the Research Foundation – Flanders (FWO)

    Analysis for genotyping Duffy blood group in inhabitants of Sudan, the Fourth Cataract of the Nile

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    <p>Abstract</p> <p>Background</p> <p>Genetic polymophisms of the Duffy antigen receptor for the chemokines (DARC) gene successfully protected against blood stage infection by <it>Plasmodium vivax </it>infection. The Fy (a-, b-) phenotype is predominant among African populations, particularly those originating from West Africa, and it is rare among non-African populations. The aim of this study was to analyse the frequency of four Duffy blood groups based on SNPs (T-33C, G125A, G298A and C5411T) in two local tribes of Sudanese Arabs, the <it>Shagia </it>and <it>Manasir</it>, which are both from the region of the Fourth Nile cataract in Sudan.</p> <p>Methods</p> <p>An analysis of polymorphisms was performed on 217 individuals (126 representatives of the <it>Shagia </it>tribe and 91 of the <it>Manasir)</it>. Real-time PCR and TaqMan Genotyping Assays were used to study the prevalence of alleles and genotypes.</p> <p>Results</p> <p>The analysis of allelic and genotype frequency in the T-33C polymorphisms demonstrated a significant dominance of the <it>C </it>allele and <it>CC </it>genotype (OR = 0.53 [0.32-0.88]; p = 0.02) in both tribes. The G125A polymorphism is associated with phenotype Fy(a-, b-) and was identified in 83% of <it>Shagia </it>and 77% of <it>Manasir</it>. With regard to G298A polymorphisms, the genotype frequencies were different between the tribes (p = 0,002) and no single <it>AA </it>homozygote was found. Based on four SNPs examined, 20 combinations of genotypes for the <it>Shagia </it>and <it>Manasir </it>tribes were determined. The genotype <it>CC/AA/GG/CT </it>occurred most often in <it>Shagia </it>tribe (45.9%) but was rare in the <it>Manasir </it>tribe (6.6%) (p < 0.001 <it>Shagia </it>versus <it>Manasir</it>). The <it>FY*A<sup>ES </sup></it>allele was identified in both analysed tribes. The presence of individuals with the <it>FY*A/FY*A </it>genotype was demonstrated only in the <it>Shagia </it>tribe.</p> <p>Conclusion</p> <p>This is probably the first report showing genotypically Duffy-negative people who carry both <it>FY*B<sup>ES </sup></it>and <it>FY*A<sup>ES</sup></it>. The identification of the <it>FY*A<sup>ES </sup></it>allele in both tribes may be due to admixture of the non-African genetic background. Taken as a whole, allele and genotype frequencies between the <it>Shagia </it>and the <it>Manasir </it>were statistically different. However, the presence of individuals with the <it>FY*A/FY*A </it>genotype was demonstrated only in the <it>Shagia </it>tribe.</p

    Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

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    Persistently low white blood cell count (WBC) and neutrophil count is a well-described phenomenon in persons of African ancestry, whose etiology remains unknown. We recently used admixture mapping to identify an approximately 1-megabase region on chromosome 1, where ancestry status (African or European) almost entirely accounted for the difference in WBC between African Americans and European Americans. To identify the specific genetic change responsible for this association, we analyzed genotype and phenotype data from 6,005 African Americans from the Jackson Heart Study (JHS), the Health, Aging and Body Composition (Health ABC) Study, and the Atherosclerosis Risk in Communities (ARIC) Study. We demonstrate that the causal variant must be at least 91% different in frequency between West Africans and European Americans. An excellent candidate is the Duffy Null polymorphism (SNP rs2814778 at chromosome 1q23.2), which is the only polymorphism in the region known to be so differentiated in frequency and is already known to protect against Plasmodium vivax malaria. We confirm that rs2814778 is predictive of WBC and neutrophil count in African Americans above beyond the previously described admixture association (P = 3.8×10−5), establishing a novel phenotype for this genetic variant

    Science Priorities for Seamounts: Research Links to Conservation and Management

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    Seamounts shape the topography of all ocean basins and can be hotspots of biological activity in the deep sea. The Census of Marine Life on Seamounts (CenSeam) was a field program that examined seamounts as part of the global Census of Marine Life (CoML) initiative from 2005 to 2010. CenSeam progressed seamount science by collating historical data, collecting new data, undertaking regional and global analyses of seamount biodiversity, mapping species and habitat distributions, challenging established paradigms of seamount ecology, developing new hypotheses, and documenting the impacts of human activities on seamounts. However, because of the large number of seamounts globally, much about the structure, function and connectivity of seamount ecosystems remains unexplored and unknown. Continual, and potentially increasing, threats to seamount resources from fishing and seabed mining are creating a pressing demand for research to inform conservation and management strategies. To meet this need, intensive science effort in the following areas will be needed: 1) Improved physical and biological data; of particular importance is information on seamount location, physical characteristics (e.g. habitat heterogeneity and complexity), more complete and intensive biodiversity inventories, and increased understanding of seamount connectivity and faunal dispersal; 2) New human impact data; these shall encompass better studies on the effects of human activities on seamount ecosystems, as well as monitoring long-term changes in seamount assemblages following impacts (e.g. recovery); 3) Global data repositories; there is a pressing need for more comprehensive fisheries catch and effort data, especially on the high seas, and compilation or maintenance of geological and biodiversity databases that underpin regional and global analyses; 4) Application of support tools in a data-poor environment; conservation and management will have to increasingly rely on predictive modelling techniques, critical evaluation of environmental surrogates as faunal “proxies”, and ecological risk assessment

    Dermatoglyphic sexual dimorphism in Yemenite Jews

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    Summary. — The dermatoglyphics of male and female Israeli Jews of Yemenite extraction, are similar to those of Jews from other geographical regions, especially with respect to the finger traits. Regarding palmar traits, some differences are evident, such as higher frequencies of patterns in the thenar and hypothenar areas and lower frequencies of accessory subdigital triradii. Dermatoglyphic sexual dimorphism is strongly expressed in this population and displays, in general, the same features as in other populations of different racial provenance. In males, there are more whorls and fewer ulnar loops on fingertips and also higher finger pattern ridge counts. These are correlated with higher total ridge counts and pattern intensity indices. Insofar as total ridge counts are concerned, there is a large difference of 25.8 ridges between the two sexes. Regarding palmar dermatoglyphics, the males differ from the females in having higher frequencies of patterns in palmar areas, greater a-b ridge counts and a-b distances, and in several other respects.Résumé. — Les dermatoglyphes d'hommes et de femmes juifs israéliens d'origine yéménite sont comparables à ceux de Juifs originaires d'autres régions géographiques, en particulier en ce qui concerne les doigts. Quant aux dermatoglyphes palmaires, quelques différences sont évidentes, comme une plus haute fréquence des dessins des régions du thénar et de l'hypothénar et une plus basse fréquence du nombre des triradii interdigitaux. Dans cette population, le dimorphisme sexuel des dermatoglyphes est important et montre en général les mêmes tendances que dans d'autres populations d'origine raciale différente. Chez les hommes, les doigts montrent davantage de tourbillons et moins de boucles ulnaires, ainsi qu'un nombre de crêtes plus élevé. Ces résultats sont associés à un nombre total de crêtes (TRC) et à des indices (Pattern Intensity Indices) plus élevés. Pour le TRC, la différence sexuelle est grande et représente 25.8 crêtes. Pour les dermatoglyphes palmaires, les hommes diffèrent des femmes, entre autre, par une plus grande fréquence de dessins, une distance a-b et un nombre de crêtes a-b plus élevés.Micle S., Kobyliansky E. Dermatoglyphic sexual dimorphism in Yemenite Jews. In: Bulletins et Mémoires de la Société d'anthropologie de Paris, XIV° Série. Tome 4 fascicule 2, 1987. pp. 95-113

    Dermatoglyphic sexual dimorphism in East European Jews

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    Abstract. — The dermatoglyphics of 206 males and 133 females, all Jews of East European extraction were studied. The general characteristics of dermatoglyphics in this population are common to those found in other Jewish groups. The sexual dimorphism in this population is well expressed in a great number of dermatoglyphic traits. Together with the generally known male-female differences in finger patterns frequencies (higher frequency of whorls and lower frequency of ulnar loops in males), we also found higher ridge counts (RCs) of these two pattern types in males. Correlated with the latter are the sex differences in other characteristics, such as the total ridge count (TRC) and its components, the RCs of individual fingers and the total RC of each hand, as well as the differences of the coefficients of variation of all the categories of ridge counts. All the sex differences confirm the validity of the authors' previous observations on male groups, concerning the : 1. Reciprocal influence of the concomitant presence of different pattern types on their RCs values ; 2. Inverse correlation existing between the mean size of a pattern type and the variability of its RCs ; 3. Dependence of the TRC variability on the frequencies of different pattern types (each pattern type influencing the TRC variability in a specific measure). The discriminant analysis in which 66 dermatoglyphic variables are used allowed a correct classification by sex of 80.4 % of the sampled individuals. The idea that environmental factors acting on the period of dermatoglyphic organization may influence this process in a different way in the two sexes, influencing also the level of the dermatoglyphic sexual dimorphism, is suggested.DIMORPHISME SEXUEL DES DERMATOGLYPHES CHEZ LES JUIFS ORIGINAIRES D'EUROPE DE L'EST Résumé. — Les dermatoglyphes ont été étudiés sur 206 hommes et 133 femmes juifs originaires d'Europe de l'Est. Les caractéristiques générales sont comparables à celles observées sur d'autres groupes de Juifs. Le dimorphisme sexuel s'observe bien pour un grand nombre de traits dermatoglyphiques. En dehors de la différence bien connue entre hommes et femmes pour les fréquences des dessins digitaux (plus grande fréquence des tourbillons et plus faible fréquence des boucles ulnaires chez les hommes), nous trouvons aussi un nombre de crêtes plus élevé chez les hommes pour ces deux dessins. Les autres différences sexuelles sont liées aux précédentes, comme par exemple le nombre total de crêtes (TRC) et ses composantes, le nombre de crêtes par doigt et par main, ou comme les différences dans les coefficients de variation de toutes les catégories de nombre de crêtes.Kobyliansky E., Micle S. Dermatoglyphic sexual dimorphism in East European Jews. In: Bulletins et Mémoires de la Société d'anthropologie de Paris, Nouvelle Série. Tome 1 fascicule 1-2, 1989. pp. 13-36
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